rs606231158
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CAGATGCTCC;CAGATGCTCC) | 0 | common in clinvar |
Make rs606231158(-;-) |
Make rs606231158(-;CCAGATGCTC) |
Make rs606231158(CCAGATGCTC;CCAGATGCTC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 34236747 |
Gene | SLC12A6 |
is a | snp |
is | mentioned by |
dbSNP | rs606231158 |
dbSNP (classic) | rs606231158 |
ClinGen | rs606231158 |
ebi | rs606231158 |
HLI | rs606231158 |
Exac | rs606231158 |
Gnomad | rs606231158 |
Varsome | rs606231158 |
LitVar | rs606231158 |
Map | rs606231158 |
PheGenI | rs606231158 |
Biobank | rs606231158 |
1000 genomes | rs606231158 |
hgdp | rs606231158 |
ensembl | rs606231158 |
geneview | rs606231158 |
scholar | rs606231158 |
rs606231158 | |
pharmgkb | rs606231158 |
gwascentral | rs606231158 |
openSNP | rs606231158 |
23andMe | rs606231158 |
SNPshot | rs606231158 |
SNPdbe | rs606231158 |
MSV3d | rs606231158 |
GWAS Ctlg | rs606231158 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231158(-;-) |
Alt | rs606231158(-;-) |
Reference | Rs606231158(CAGATGCTCC;CAGATGCTCC) |
Significance | Pathogenic |
Disease | Andermann syndrome |
Variation | info |
Gene | SLC12A6 |
CLNDBN | Andermann syndrome |
Reversed | 1 |
HGVS | NC_000015.9:g.34528948_34528957delGAGCATCTGG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005658.4, |